메뉴 건너뛰기




Volumn 10, Issue , 2004, Pages 696-702

Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 1B1; HEME; CYTOCHROME P 450 CYP1B1; CYTOCHROME P-450 CYP1B1; UNSPECIFIC MONOOXYGENASE;

EID: 15844383248     PISSN: 10900535     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (62)

References (25)
  • 1
    • 0033926590 scopus 로고    scopus 로고
    • Molecular genetics of primary congenital glaucoma
    • Sarfarazi M, Stoilov I. Molecular genetics of primary congenital glaucoma. Eye 2000; 14:422-8.
    • (2000) Eye , vol.14 , pp. 422-428
    • Sarfarazi, M.1    Stoilov, I.2
  • 2
    • 0019936088 scopus 로고
    • Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset
    • Gencik A, Gencikova A, Ferak V. Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset. Hum Genet 1982; 61:193-7.
    • (1982) Hum. Genet. , vol.61 , pp. 193-197
    • Gencik, A.1    Gencikova, A.2    Ferak, V.3
  • 3
    • 0030942553 scopus 로고    scopus 로고
    • Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21
    • Stoilov I, Akarsu AN, Sarfarazi M. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet 1997; 6:641-7.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 641-647
    • Stoilov, I.1    Akarsu, A.N.2    Sarfarazi, M.3
  • 4
    • 0032040349 scopus 로고    scopus 로고
    • Population-based assessment of childhood blindness in southern India
    • Dandona L, Williams JD, Williams BC, Rao GN. Population-based assessment of childhood blindness in southern India. Arch Ophthalmol 1998; 116:545-6.
    • (1998) Arch. Ophthalmol. , vol.116 , pp. 545-546
    • Dandona, L.1    Williams, J.D.2    Williams, B.C.3    Rao, G.N.4
  • 7
    • 34548368522 scopus 로고    scopus 로고
    • The third genetic locus (GLC3C) for Primary Congenital Glaucoma (PCG) maps to Chromosome 14q24.3
    • ARVO Annual Meeting; May 5-10; Fort Lauderdale (FL)
    • Stoilov IR, Sarfarazi M. The third genetic locus (GLC3C) for Primary Congenital Glaucoma (PCG) maps to Chromosome 14q24.3. ARVO Annual Meeting; 2002 May 5-10; Fort Lauderdale (FL).
    • (2002)
    • Stoilov, I.R.1    Sarfarazi, M.2
  • 8
    • 18344398251 scopus 로고    scopus 로고
    • CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients
    • Sitorus R, Ardjo SM, Lorenz B, Preising M. CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients. J Med Genet 2003; 40:e9.
    • (2003) J. Med. Genet. , vol.40
    • Sitorus, R.1    Ardjo, S.M.2    Lorenz, B.3    Preising, M.4
  • 13
    • 2442723700 scopus 로고    scopus 로고
    • Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma
    • Plasilova M, Stoilov I, Sarfarazi M, Kadasi L, Ferakova E, Ferak V. Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. J Med Genet 1999; 36:290-4.
    • (1999) J. Med. Genet. , vol.36 , pp. 290-294
    • Plasilova, M.1    Stoilov, I.2    Sarfarazi, M.3    Kadasi, L.4    Ferakova, E.5    Ferak, V.6
  • 14
    • 0034639693 scopus 로고    scopus 로고
    • Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus
    • Erratum in: Hum Mol Genet 2000 Apr 12; 9(7):1141
    • Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, Astle WF, Lupski JR. Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum Mol Genet 2000; 9:367-74. Erratum in: Hum Mol Genet 2000 Apr 12; 9(7):1141.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 367-374
    • Bejjani, B.A.1    Stockton, D.W.2    Lewis, R.A.3    Tomey, K.F.4    Dueker, D.K.5    Jabak, M.6    Astle, W.F.7    Lupski, J.R.8
  • 15
    • 0037718412 scopus 로고    scopus 로고
    • Endogamy, consanguinity and community genetics
    • Bittles AH. Endogamy, consanguinity and community genetics. J Genet 2002; 81:91-8.
    • (2002) J. Genet. , vol.81 , pp. 91-98
    • Bittles, A.H.1
  • 21
    • 1942522732 scopus 로고    scopus 로고
    • Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France
    • Colomb E, Kaplan J, Garchon HJ. Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France. Hum Mutat 2003; 22:496.
    • (2003) Hum. Mutat. , vol.22 , pp. 496
    • Colomb, E.1    Kaplan, J.2    Garchon, H.J.3
  • 22
    • 1442283865 scopus 로고    scopus 로고
    • Founder mutations of CYP1B1 gene in patients with congenital glaucoma from the United States and Brazil
    • Sena DF, Finzi S, Rodgers K, Del Bono E, Haines JL, Wiggs JL. Founder mutations of CYP1B1 gene in patients with congenital glaucoma from the United States and Brazil. J Med Genet 2004; 41:e6.
    • (2004) J. Med. Genet. , vol.41
    • Sena, D.F.1    Finzi, S.2    Rodgers, K.3    Del Bono, E.4    Haines, J.L.5    Wiggs, J.L.6
  • 23
    • 0027376024 scopus 로고
    • Importance of the proline-rich region following signal-anchor sequence in the formation of correct conformation of microsomal cytochrome P-450s
    • Yamazaki S, Sato K, Suhara K, Sakaguchi M, Mihara K, Omura T. Importance of the proline-rich region following signal-anchor sequence in the formation of correct conformation of microsomal cytochrome P-450s. J Biochem (Tokyo) 1993; 114:652-7.
    • (1993) J. Biochem. (Tokyo) , vol.114 , pp. 652-657
    • Yamazaki, S.1    Sato, K.2    Suhara, K.3    Sakaguchi, M.4    Mihara, K.5    Omura, T.6
  • 24
    • 0023889414 scopus 로고
    • Site-directed mutageneses of rat liver cytochrome P-450d: Axial ligand and heme incorporation
    • Shimizu T, Hirano K, Takahashi M, Hatano M, Fujii-Kuriyama Y. Site-directed mutageneses of rat liver cytochrome P-450d: axial ligand and heme incorporation. Biochemistry 1988; 27:4138-41.
    • (1988) Biochemistry , vol.27 , pp. 4138-4141
    • Shimizu, T.1    Hirano, K.2    Takahashi, M.3    Hatano, M.4    Fujii-Kuriyama, Y.5
  • 25
    • 0842288844 scopus 로고    scopus 로고
    • Long-term surgical and visual outcomes in Indian children with developmental glaucoma operated on within 6 months of birth
    • Mandal AK, Bhatia PG, Bhaskar A, Nutheti R. Long-term surgical and visual outcomes in Indian children with developmental glaucoma operated on within 6 months of birth. Ophthalmology 2004; 111:283-90.
    • (2004) Ophthalmology , vol.111 , pp. 283-290
    • Mandal, A.K.1    Bhatia, P.G.2    Bhaskar, A.3    Nutheti, R.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.